Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.K169E

CAT

3,201 papers

RefSeq Summary

This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase c...

Pfam Domains

Catalaseaa 28–411UCSCCatalase
Catalase-relaa 434–497UCSCCatalase-related immune-responsive

Gene Aliases

HGNC Name

catalase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001752.4
p.K169E
c.505A>G
Surrounding Variants
2 papers
NM_001752.4
p.K169N
c.507G>T
9 papers
NM_001752.4
p.S167G
c.499A>G
1 paper
NM_001752.4
p.N171insFs
c.512_513ins4
1 paper
NM_001752.4
p.N171S
c.512A>G
1 paper
NM_001752.4
p.H166Q
c.498C>A
1 paper
NM_001752.4
p.H166Q
c.498C>G
1 paper
NM_001752.4
p.P172insFs
c.514_515insCA
1 paper
NM_001752.4
p.H166Y
c.496C>T
1 paper
NM_001752.4
p.P172S
c.514C>T
2 papers
NM_001752.4
p.H166_K169del0
c.498_506del9
1 paper
NM_001752.4
p.P172H
c.515C>A
1 paper
NM_001752.4
p.P172R
c.515C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."